MPS3D
MCID: MCP046
MIFTS: 34
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Mucopolysaccharidosis, Type Iiid (MPS3D)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:
Characteristics:Orphanet epidemiological data:59
sanfilippo syndrome type d
Inheritance: Autosomal recessive; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder four clinically indistinguishable biochemically distinct forms (see ) HPO:32
mucopolysaccharidosis, type iiid:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Respiratory diseases Skin diseases Liver diseases
ICD10:
34
Orphanet: 59
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NIH Rare Diseases
:
53
Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.
MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidosis iii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase). Affiliated tissues include brain, spinal cord and bone, and related phenotypes are low-set ears and short neck OMIM : 57 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940) UniProtKB/Swiss-Prot : 74 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Wikipedia : 75 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more... |
Diseases in the Mucopolysaccharidosis-Plus Syndrome family:Diseases related to Mucopolysaccharidosis, Type Iiid via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iiid:![]() |
Human phenotypes related to Mucopolysaccharidosis, Type Iiid:32 (show all 35)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:252940UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:seizures, joint stiffness, diarrhea |
Interventional clinical trials:
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MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:41
Brain,
Spinal Cord,
Bone,
Eye
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Articles related to Mucopolysaccharidosis, Type Iiid:(show all 27)
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ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:6 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:74
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Search
GEO
for disease gene expression data for Mucopolysaccharidosis, Type Iiid.
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